ArticleMolecular vision2014
CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Association between genetic variation of complement C3 and the susceptibility to advanced age-related macular degeneration: a meta-analysis.BMC ophthalmology · 2018Pooled it
- Immunogenetic and Environmental Factors in Age-Related Macular Disease.International journal of molecular sciences · 2024Review
- Comparison of machine learning tools for the prediction of AMD based on genetic, age, and diabetes-related variables in the Chinese population.Regenerative therapy · 2020Article
- Common variants of fetal and maternal complement genes in preeclampsia: pregnancy specific complotype.Scientific reports · 2020Article
- Lack of Delta-Sarcoglycan (International journal of molecular sciences · 2019Article
- The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.Journal of current ophthalmology · 2019Article
- Playing 'hide-and-seek' with factor H: game-theoretical analysis of a single nucleotide polymorphism.Journal of the Royal Society, Interface · 2018Article
- Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.Scientific reports · 2016Article
- Mitochondrial variation and the risk of age-related macular degeneration across diverse populations.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2015Article
- Geographical and ethnic distribution of single nucleotide polymorphisms within genes of the folate/homocysteine pathway metabolism.Genes & nutrition · 2014Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo evaluate the contribution of genetic variants of complement factor H (CFH), complement component 2 and 3 (C2 and C3), complement factor B (CFB), and age-related maculopathy susceptibility 2 (ARMS2) to age-related macular degeneration (AMD) risk in the Mexican Mestizo population.
methodsAnalysis included 282 unrelated Mexican patients with advanced AMD, 205 healthy controls, and 280 population controls. Stereoscopic fundus images were graded on the Clinical Age-Related Maculopathy System (CARMS). We designed a resequencing strategy using primers with M13 adaptor for the 23 exons of the CFH gene in a subgroup of 96 individuals clinically evaluated: 48 AMD cases and 48 age- and sex-matched healthy controls. Single nucleotide polymorphisms (SNPs) in C3 (Arg80Gly and Pro292Leu), C2 (rs547154), CFB (Leu9His), and ARMS2 (Ala69Ser) were genotyped in all patients, healthy and population controls using TaqMan assay.
resultsAll evaluated individuals were Mexican Mestizos, and their genetic ancestry was validated using 224 ancestry informative markers and calculating F(st) values. The CFH resequencing revealed 19 SNPs and a common variant in the intron 2 splice acceptor site; three CFH haplotypes inferred from individual genotypes, showed significant differences between cases and controls. The risk alleles in C3 (rs1047286, odds ratio [OR]=2.48, 95% confidence interval [CI]=1.64-3.75, p=1.59E-05; rs2230199, OR=2.15, 95% CI=1.48-3.13, p=6.28E-05) and in ARMS2 (rs10490924, OR=3.09, 95% CI=2.48-3.86, p=5.42E-23) were strongly associated with risk of AMD. The protective effect of alleles in C2 (rs547154) and CFB (rs4151667) showed a trend but was not significantly associated after correction for multiple testing.
conclusionsOur results show that ARMS2 and C3 are major contributors to advanced AMD in Mexican patients, while the contributions of CFH, C2, and CFB are minor to those of other populations, reveling significant ethnic differences in minor allele frequencies. We provide evidence that two specific common haplotypes in the CFH gene predispose individuals to AMD, while another may confer reduced risk of disease in this admixed population.
Indexed as
Identifiers
24453474PMC3891434W2141556262What OpenQuestion holds
Registered trials
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